ClinVar Miner

Submissions for variant NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=)

gnomAD frequency: 0.59732  dbSNP: rs2424922
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000343834 SCV000433438 benign Immunodeficiency-centromeric instability-facial anomalies syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455984 SCV000539011 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001513227 SCV001720810 benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000343834 SCV001875665 benign Immunodeficiency-centromeric instability-facial anomalies syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001824746 SCV002074606 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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